Varaico: Literature-Extracted Genetic Variants

NAGLU

432 papers

RefSeq Summary

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysa...

Pfam Domains

NAGLU_Naa 30–116UCSCAlpha-N-acetylglucosaminidase (NAGLU) N-terminal domain

NAGLUaa 130–465UCSCAlpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain

NAGLU_Caa 474–733UCSCAlpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

Gene Aliases

HGNC Name

N-acetyl-alpha-glucosaminidase

HGNC Alias Symbol

NAG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000263.4

p.R737S

c.2209C>A

Surrounding Variants

11 papers

NM_000263.4

p.R737G

c.2209C>G

1 paper

NM_000263.4

p.R737C

c.2209C>T

1 paper

NM_000263.4

p.R737H

c.2210G>A

1 paper

NM_000263.4

p.P736L

c.2207C>T

1 paper

NM_000263.4

p.A740P

c.2218G>C

1 paper

NM_000263.4

p.G741S

c.2221G>A

1 paper

NM_000263.4

p.G741_S742delFs

c.2223_2224delCT

2 papers

NM_000263.4

p.L732delFs

c.2194delC

1 paper

NM_000263.4

p.F731V

c.2191T>G

2 papers

NM_000263.4

p.F731fs

c.2191_2192fs

1 paper

NM_000263.4

p.W743*

c.2228G>A

1 paper

NM_000263.4

p.W743*

c.2229G>A